Incidental Mutation 'R1754:Zfp106'
ID 193812
Institutional Source Beutler Lab
Gene Symbol Zfp106
Ensembl Gene ENSMUSG00000027288
Gene Name zinc finger protein 106
Synonyms Cd-1, H3a, Sh3bp3, sirm
MMRRC Submission 039786-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1754 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 120506820-120563843 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 120533763 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 721 (S721L)
Ref Sequence ENSEMBL: ENSMUSP00000128995 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055241] [ENSMUST00000135625] [ENSMUST00000171215]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000055241
AA Change: S744L

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000055602
Gene: ENSMUSG00000027288
AA Change: S744L

DomainStartEndE-ValueType
ZnF_C2H2 5 29 1.51e0 SMART
ZnF_C2H2 43 67 7.18e1 SMART
low complexity region 75 92 N/A INTRINSIC
low complexity region 141 152 N/A INTRINSIC
low complexity region 199 212 N/A INTRINSIC
low complexity region 466 480 N/A INTRINSIC
coiled coil region 800 823 N/A INTRINSIC
low complexity region 842 856 N/A INTRINSIC
low complexity region 1049 1062 N/A INTRINSIC
low complexity region 1312 1321 N/A INTRINSIC
low complexity region 1361 1373 N/A INTRINSIC
low complexity region 1389 1409 N/A INTRINSIC
WD40 1525 1562 9.24e-4 SMART
WD40 1565 1607 1.83e-7 SMART
PQQ 1587 1618 3.42e2 SMART
WD40 1651 1691 3.45e-1 SMART
PQQ 1671 1702 9.14e1 SMART
WD40 1694 1731 2.12e-3 SMART
PQQ 1711 1742 6.42e0 SMART
WD40 1734 1771 6e-3 SMART
PQQ 1751 1782 5.7e2 SMART
WD40 1774 1811 3.58e-1 SMART
ZnF_C2H2 1818 1843 5.34e-1 SMART
ZnF_C2H2 1851 1879 1.31e2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000135625
SMART Domains Protein: ENSMUSP00000126939
Gene: ENSMUSG00000027288

DomainStartEndE-ValueType
ZnF_C2H2 5 29 1.51e0 SMART
low complexity region 53 67 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141874
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147353
Predicted Effect probably benign
Transcript: ENSMUST00000163384
Predicted Effect probably benign
Transcript: ENSMUST00000167241
SMART Domains Protein: ENSMUSP00000127803
Gene: ENSMUSG00000027288

DomainStartEndE-ValueType
ZnF_C2H2 4 28 1.51e0 SMART
low complexity region 74 85 N/A INTRINSIC
low complexity region 132 145 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000171215
AA Change: S721L

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000128995
Gene: ENSMUSG00000027288
AA Change: S721L

DomainStartEndE-ValueType
ZnF_C2H2 20 44 7.18e1 SMART
low complexity region 52 69 N/A INTRINSIC
low complexity region 118 129 N/A INTRINSIC
low complexity region 176 189 N/A INTRINSIC
low complexity region 443 457 N/A INTRINSIC
coiled coil region 777 800 N/A INTRINSIC
low complexity region 819 833 N/A INTRINSIC
low complexity region 1026 1039 N/A INTRINSIC
low complexity region 1289 1298 N/A INTRINSIC
low complexity region 1338 1350 N/A INTRINSIC
low complexity region 1366 1386 N/A INTRINSIC
WD40 1502 1539 9.24e-4 SMART
WD40 1542 1584 1.83e-7 SMART
PQQ 1564 1595 3.42e2 SMART
WD40 1628 1668 3.45e-1 SMART
PQQ 1648 1679 9.14e1 SMART
WD40 1671 1708 2.12e-3 SMART
PQQ 1688 1719 6.42e0 SMART
WD40 1711 1748 6e-3 SMART
PQQ 1728 1759 5.7e2 SMART
WD40 1751 1788 3.58e-1 SMART
ZnF_C2H2 1795 1820 5.34e-1 SMART
ZnF_C2H2 1828 1856 1.31e2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181963
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.6%
  • 20x: 93.3%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit an abnormal gait, progressive motor deficits, kyphosis, weight loss, severe adult-onset degenerative sensory-motor axonopathy, mitochondrial dysfunction, and premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563D23Rik A G 16: 92,321,031 (GRCm38) V123A probably damaging Het
Abca2 T A 2: 25,434,333 (GRCm38) L234M probably benign Het
Abca3 G A 17: 24,377,779 (GRCm38) S402N probably benign Het
Acad12 A T 5: 121,607,481 (GRCm38) V249D probably benign Het
Acp4 T C 7: 44,255,004 (GRCm38) I212V probably benign Het
Actl6a T A 3: 32,718,574 (GRCm38) V233D probably damaging Het
Aire T A 10: 78,030,290 (GRCm38) Q533L probably damaging Het
Aldh3b3 T C 19: 3,968,517 (GRCm38) S411P probably benign Het
Amer2 A G 14: 60,379,757 (GRCm38) K467R probably damaging Het
Apol9b A T 15: 77,735,762 (GRCm38) I253F probably benign Het
Arid1b A G 17: 5,279,201 (GRCm38) probably null Het
Atp6v0a4 T C 6: 38,067,829 (GRCm38) T494A probably benign Het
Atp6v1b2 A G 8: 69,101,961 (GRCm38) D106G probably benign Het
Avpr1b T C 1: 131,600,101 (GRCm38) S121P probably damaging Het
Bcl11a A C 11: 24,164,724 (GRCm38) E689A probably damaging Het
Brpf3 T G 17: 28,821,323 (GRCm38) L906R probably benign Het
Btn1a1 T C 13: 23,460,468 (GRCm38) K287E probably benign Het
Cacna1i A G 15: 80,371,529 (GRCm38) H871R probably damaging Het
Cd14 A T 18: 36,725,514 (GRCm38) L296Q probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm38) probably benign Het
Colgalt1 G T 8: 71,623,179 (GRCm38) W490L probably damaging Het
Ctnna2 A G 6: 77,636,749 (GRCm38) I273T possibly damaging Het
Dnah7a A T 1: 53,504,185 (GRCm38) D2275E probably benign Het
Dnah7a A C 1: 53,561,900 (GRCm38) probably null Het
Egfem1 T C 3: 29,668,333 (GRCm38) Y404H possibly damaging Het
Esm1 A T 13: 113,216,696 (GRCm38) N171Y probably damaging Het
Exoc1 T G 5: 76,560,322 (GRCm38) probably null Het
Fcho1 A G 8: 71,711,246 (GRCm38) I580T probably benign Het
Fgfr1 A G 8: 25,570,210 (GRCm38) H552R probably damaging Het
Fsbp A G 4: 11,583,906 (GRCm38) R202G probably damaging Het
Gabra6 A G 11: 42,316,561 (GRCm38) V231A probably damaging Het
Gm8765 A T 13: 50,701,087 (GRCm38) T254S probably damaging Het
Gmeb1 A G 4: 132,232,027 (GRCm38) S239P probably benign Het
Gnpat T A 8: 124,877,006 (GRCm38) Y208N probably damaging Het
Il21 T C 3: 37,225,525 (GRCm38) K114R possibly damaging Het
Inhbc T C 10: 127,370,293 (GRCm38) D35G possibly damaging Het
Inpp4b A T 8: 81,770,811 (GRCm38) T87S probably damaging Het
Kcns2 T C 15: 34,839,517 (GRCm38) I342T possibly damaging Het
Ky A T 9: 102,541,927 (GRCm38) T378S possibly damaging Het
Lcat CAT C 8: 105,941,814 (GRCm38) probably null Het
Lrrc8d T C 5: 105,812,657 (GRCm38) V311A probably benign Het
Mief1 A G 15: 80,249,602 (GRCm38) I287V probably damaging Het
Mrpl47 A G 3: 32,730,084 (GRCm38) V179A probably benign Het
Mtcl1 T C 17: 66,380,183 (GRCm38) K576R probably damaging Het
Myh10 C A 11: 68,813,058 (GRCm38) A1902E probably damaging Het
Nlrp3 A G 11: 59,558,402 (GRCm38) T837A possibly damaging Het
Nr1i3 T C 1: 171,217,394 (GRCm38) Y132H probably damaging Het
Oit3 T C 10: 59,427,940 (GRCm38) probably null Het
Olfr1186 A T 2: 88,525,815 (GRCm38) R77S probably damaging Het
Olfr1467 T C 19: 13,365,353 (GRCm38) S242P probably damaging Het
Olfr193 T A 16: 59,110,581 (GRCm38) I10F probably benign Het
Olfr30 A T 11: 58,455,262 (GRCm38) M229K probably damaging Het
Olfr427 A G 1: 174,100,033 (GRCm38) T192A probably benign Het
Olfr533 A T 7: 140,466,860 (GRCm38) I220F probably damaging Het
Olfr8 T A 10: 78,955,697 (GRCm38) V164E probably damaging Het
Olfr825 G A 10: 130,163,164 (GRCm38) T54I probably benign Het
Pdlim4 T C 11: 54,055,873 (GRCm38) E196G possibly damaging Het
Pigs A G 11: 78,337,847 (GRCm38) Y293C probably damaging Het
Pkd1l2 A T 8: 117,030,719 (GRCm38) S1527T possibly damaging Het
Pkd2l1 A T 19: 44,155,601 (GRCm38) Y344* probably null Het
Pmp2 T C 3: 10,182,224 (GRCm38) probably null Het
Polr3e T C 7: 120,939,298 (GRCm38) probably null Het
Ppp3ca C G 3: 136,881,448 (GRCm38) I230M probably benign Het
Ppp5c T C 7: 17,005,310 (GRCm38) H463R probably benign Het
Ptger1 A G 8: 83,669,297 (GRCm38) N328D probably benign Het
Rhno1 A T 6: 128,357,859 (GRCm38) I167N probably benign Het
Rictor C A 15: 6,735,368 (GRCm38) P34H probably damaging Het
Rnf10 A C 5: 115,245,865 (GRCm38) S630R probably damaging Het
Rnf168 A G 16: 32,299,124 (GRCm38) Q501R probably benign Het
Rngtt T G 4: 33,329,634 (GRCm38) probably null Het
Samd9l G T 6: 3,373,126 (GRCm38) F1378L probably damaging Het
Slc9c1 T A 16: 45,589,509 (GRCm38) M864K probably benign Het
Slitrk5 T C 14: 111,680,519 (GRCm38) F525S probably damaging Het
Sox6 T C 7: 115,477,055 (GRCm38) M784V probably benign Het
Spint2 C T 7: 29,260,366 (GRCm38) probably null Het
Ssh1 A T 5: 113,955,845 (GRCm38) I276N probably damaging Het
Trank1 T A 9: 111,392,871 (GRCm38) V2892D probably benign Het
Ttn C A 2: 76,751,040 (GRCm38) E21424* probably null Het
Usp17lc T C 7: 103,418,848 (GRCm38) I450T probably benign Het
Vcan A G 13: 89,704,735 (GRCm38) V702A probably benign Het
Vmn1r36 TA TAA 6: 66,716,533 (GRCm38) probably null Het
Vmn2r51 G T 7: 10,099,946 (GRCm38) D388E probably benign Het
Zfp189 T A 4: 49,529,342 (GRCm38) H148Q possibly damaging Het
Zfp352 A T 4: 90,223,809 (GRCm38) Y62F probably benign Het
Zfp839 T C 12: 110,855,457 (GRCm38) V235A probably damaging Het
Zfp871 T C 17: 32,775,334 (GRCm38) Y289C probably damaging Het
Other mutations in Zfp106
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00330:Zfp106 APN 2 120,539,497 (GRCm38) missense probably benign 0.45
IGL00816:Zfp106 APN 2 120,526,848 (GRCm38) missense probably benign 0.02
IGL00822:Zfp106 APN 2 120,514,160 (GRCm38) missense probably damaging 1.00
IGL00848:Zfp106 APN 2 120,512,727 (GRCm38) missense probably damaging 1.00
IGL01293:Zfp106 APN 2 120,535,035 (GRCm38) missense possibly damaging 0.92
IGL01323:Zfp106 APN 2 120,524,464 (GRCm38) missense possibly damaging 0.74
IGL01662:Zfp106 APN 2 120,523,553 (GRCm38) missense probably benign 0.17
IGL01683:Zfp106 APN 2 120,524,555 (GRCm38) missense probably benign 0.00
IGL01809:Zfp106 APN 2 120,533,671 (GRCm38) missense probably damaging 1.00
IGL01958:Zfp106 APN 2 120,534,807 (GRCm38) missense probably benign 0.26
IGL01960:Zfp106 APN 2 120,539,322 (GRCm38) missense probably benign 0.08
IGL01960:Zfp106 APN 2 120,524,043 (GRCm38) missense probably damaging 0.99
IGL02168:Zfp106 APN 2 120,534,231 (GRCm38) missense possibly damaging 0.90
IGL02623:Zfp106 APN 2 120,545,914 (GRCm38) splice site probably null
IGL02798:Zfp106 APN 2 120,510,510 (GRCm38) missense probably damaging 1.00
IGL02828:Zfp106 APN 2 120,531,697 (GRCm38) missense possibly damaging 0.86
IGL03022:Zfp106 APN 2 120,528,639 (GRCm38) splice site probably benign
IGL03308:Zfp106 APN 2 120,524,024 (GRCm38) missense probably benign 0.00
IGL03324:Zfp106 APN 2 120,535,387 (GRCm38) missense probably benign 0.01
lepton UTSW 2 120,532,104 (GRCm38) missense probably damaging 0.98
Proton UTSW 2 120,510,534 (GRCm38) missense probably damaging 1.00
quark UTSW 2 120,535,060 (GRCm38) nonsense probably null
R0040_zfp106_031 UTSW 2 120,531,613 (GRCm38) missense probably damaging 1.00
string UTSW 2 120,533,594 (GRCm38) missense probably damaging 0.96
theory UTSW 2 120,533,677 (GRCm38) nonsense probably null
R0040:Zfp106 UTSW 2 120,531,613 (GRCm38) missense probably damaging 1.00
R0040:Zfp106 UTSW 2 120,531,613 (GRCm38) missense probably damaging 1.00
R0135:Zfp106 UTSW 2 120,520,487 (GRCm38) missense probably damaging 0.99
R0180:Zfp106 UTSW 2 120,533,875 (GRCm38) missense probably damaging 0.96
R0387:Zfp106 UTSW 2 120,528,472 (GRCm38) splice site probably null
R0558:Zfp106 UTSW 2 120,532,196 (GRCm38) missense probably damaging 1.00
R0680:Zfp106 UTSW 2 120,527,016 (GRCm38) missense probably damaging 1.00
R0729:Zfp106 UTSW 2 120,555,248 (GRCm38) missense probably damaging 0.99
R0828:Zfp106 UTSW 2 120,535,603 (GRCm38) missense probably benign 0.00
R1124:Zfp106 UTSW 2 120,534,714 (GRCm38) missense probably benign 0.00
R1147:Zfp106 UTSW 2 120,520,536 (GRCm38) missense probably damaging 1.00
R1147:Zfp106 UTSW 2 120,520,536 (GRCm38) missense probably damaging 1.00
R1226:Zfp106 UTSW 2 120,524,079 (GRCm38) missense probably damaging 1.00
R1239:Zfp106 UTSW 2 120,533,594 (GRCm38) missense probably damaging 0.96
R1634:Zfp106 UTSW 2 120,533,677 (GRCm38) nonsense probably null
R1754:Zfp106 UTSW 2 120,533,764 (GRCm38) missense probably damaging 0.98
R1755:Zfp106 UTSW 2 120,535,175 (GRCm38) missense probably damaging 1.00
R1763:Zfp106 UTSW 2 120,520,428 (GRCm38) missense probably benign 0.03
R1875:Zfp106 UTSW 2 120,513,615 (GRCm38) critical splice donor site probably null
R1903:Zfp106 UTSW 2 120,526,848 (GRCm38) missense probably benign 0.02
R1932:Zfp106 UTSW 2 120,531,681 (GRCm38) missense possibly damaging 0.80
R2070:Zfp106 UTSW 2 120,523,529 (GRCm38) missense probably benign 0.11
R2301:Zfp106 UTSW 2 120,535,650 (GRCm38) missense probably benign 0.04
R3429:Zfp106 UTSW 2 120,527,063 (GRCm38) missense probably benign 0.00
R3720:Zfp106 UTSW 2 120,534,599 (GRCm38) missense probably benign 0.01
R3875:Zfp106 UTSW 2 120,534,613 (GRCm38) missense probably benign 0.08
R3881:Zfp106 UTSW 2 120,532,149 (GRCm38) missense probably benign 0.01
R3921:Zfp106 UTSW 2 120,533,616 (GRCm38) missense probably damaging 1.00
R3923:Zfp106 UTSW 2 120,534,856 (GRCm38) missense probably damaging 0.99
R4087:Zfp106 UTSW 2 120,526,899 (GRCm38) splice site probably null
R4678:Zfp106 UTSW 2 120,533,740 (GRCm38) missense probably damaging 1.00
R4965:Zfp106 UTSW 2 120,533,919 (GRCm38) missense probably damaging 0.98
R5011:Zfp106 UTSW 2 120,510,534 (GRCm38) missense probably damaging 1.00
R5013:Zfp106 UTSW 2 120,510,534 (GRCm38) missense probably damaging 1.00
R5151:Zfp106 UTSW 2 120,534,727 (GRCm38) missense probably benign 0.01
R5227:Zfp106 UTSW 2 120,523,968 (GRCm38) missense probably benign 0.11
R5328:Zfp106 UTSW 2 120,520,417 (GRCm38) missense possibly damaging 0.73
R5403:Zfp106 UTSW 2 120,534,781 (GRCm38) missense probably benign 0.02
R5624:Zfp106 UTSW 2 120,531,957 (GRCm38) missense probably damaging 0.99
R5686:Zfp106 UTSW 2 120,533,507 (GRCm38) splice site probably null
R5691:Zfp106 UTSW 2 120,524,471 (GRCm38) missense probably damaging 0.99
R5852:Zfp106 UTSW 2 120,516,006 (GRCm38) missense probably damaging 1.00
R6032:Zfp106 UTSW 2 120,535,393 (GRCm38) missense probably benign 0.00
R6032:Zfp106 UTSW 2 120,535,393 (GRCm38) missense probably benign 0.00
R6298:Zfp106 UTSW 2 120,522,704 (GRCm38) missense probably damaging 1.00
R6409:Zfp106 UTSW 2 120,532,104 (GRCm38) missense probably damaging 0.98
R6505:Zfp106 UTSW 2 120,534,502 (GRCm38) missense probably damaging 0.99
R6598:Zfp106 UTSW 2 120,535,060 (GRCm38) nonsense probably null
R6765:Zfp106 UTSW 2 120,539,454 (GRCm38) missense probably damaging 0.96
R7013:Zfp106 UTSW 2 120,531,632 (GRCm38) missense probably damaging 0.99
R7453:Zfp106 UTSW 2 120,545,919 (GRCm38) splice site probably null
R7453:Zfp106 UTSW 2 120,510,527 (GRCm38) missense probably damaging 1.00
R7643:Zfp106 UTSW 2 120,512,734 (GRCm38) missense probably benign 0.01
R7829:Zfp106 UTSW 2 120,524,057 (GRCm38) missense possibly damaging 0.94
R7897:Zfp106 UTSW 2 120,535,615 (GRCm38) nonsense probably null
R7909:Zfp106 UTSW 2 120,514,219 (GRCm38) missense probably damaging 1.00
R8054:Zfp106 UTSW 2 120,524,519 (GRCm38) missense possibly damaging 0.93
R8124:Zfp106 UTSW 2 120,524,331 (GRCm38) missense probably benign 0.44
R8203:Zfp106 UTSW 2 120,519,078 (GRCm38) missense probably damaging 1.00
R8350:Zfp106 UTSW 2 120,535,618 (GRCm38) missense
R8450:Zfp106 UTSW 2 120,535,618 (GRCm38) missense
R8698:Zfp106 UTSW 2 120,524,119 (GRCm38) critical splice donor site probably null
R8985:Zfp106 UTSW 2 120,535,596 (GRCm38) missense
R9015:Zfp106 UTSW 2 120,533,538 (GRCm38) missense probably damaging 1.00
R9036:Zfp106 UTSW 2 120,539,425 (GRCm38) missense probably damaging 1.00
R9142:Zfp106 UTSW 2 120,520,454 (GRCm38) missense probably damaging 1.00
R9154:Zfp106 UTSW 2 120,534,331 (GRCm38) nonsense probably null
R9175:Zfp106 UTSW 2 120,522,716 (GRCm38) missense probably damaging 1.00
R9529:Zfp106 UTSW 2 120,520,526 (GRCm38) missense probably damaging 0.97
R9572:Zfp106 UTSW 2 120,519,078 (GRCm38) missense probably damaging 1.00
R9581:Zfp106 UTSW 2 120,535,326 (GRCm38) missense
RF008:Zfp106 UTSW 2 120,524,545 (GRCm38) small deletion probably benign
RF025:Zfp106 UTSW 2 120,524,545 (GRCm38) small deletion probably benign
X0025:Zfp106 UTSW 2 120,534,816 (GRCm38) missense probably benign
Z1088:Zfp106 UTSW 2 120,530,490 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTTGCTGAATGACCTGTTCCCAG -3'
(R):5'- CACAGTTCTCCAGAAAGAGGCTGAG -3'

Sequencing Primer
(F):5'- AGTTGACATTTCTCCTTGATGC -3'
(R):5'- GGCTTACTGCTAAACTTGAAGACC -3'
Posted On 2014-05-23